Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : firstname.lastname@example.org
|Synonyms||bHLHe73 | ECYT4 | HIF2A | HLF | MOP2 | PASD2|
|Gene Description||EPAS1, endothelial PAS domain protein 1, is an alpha subunit member of the hypoxia-inducible factor (HIF), which is an oxygen sensitive transcription complex that when dysregulated can promote tumor progression (PMID: 29032465, PMID: 22931260, PMID: 28322821) and congenital heart disease (PMID: 30487161). EPAS1 mutations have been identified in paraganglioma (PMID: 22931260, PMID: 23533246), pheochromocytoma (PMID: 23533246), and hemangioblastoma (PMID: 26514359).|